Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

OBJECTIVE: Identifying an intriguing mechanism for unmasking recessive hereditary spastic paraplegias. METHOD: Herein, we describe 4 novel homozygous FA2H mutations in 4 nonconsanguineous families detected by whole-exome sequencing or a targeted gene panel analysis providing high coverage of all kno...

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Vydáno v:Neurology
Hlavní autoři: Soehn, Anne S., Rattay, Tim W., Beck-Wödl, Stefanie, Schäferhoff, Karin, Monk, David, Döbler-Neumann, Marion, Hörtnagel, Konstanze, Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Züchner, Stephan, Riess, Olaf, Schüle, Rebecca, Bauer, Peter, Schöls, Ludger
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4940069/
https://ncbi.nlm.nih.gov/pubmed/27316240
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002843
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